[特发性先天性马蹄内翻足中GLI3基因的关联及突变分析]
[Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus].
作者信息
Zhang Xuan, Jin Chun-lian, Liu Li-ying, Zhao Ning, Zhang Li-jun, Ji Shi-jun, Sun Kai-lai
机构信息
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):551-4.
OBJECTIVE
To explore the association and mutation of GLI3 gene in idiopathic congenital talipes equinovarus(ICTEV).
METHODS
(1) Genotype of 2 single nucleotide polymorphism (SNP) in 84 idiopathic congenital talipes equinovarus nuclear pedigree were analyzed by restriction fragment length polymorphism. Association analysis was directed between single SNP locus and ICTEV through ETDT software, respectively.(2) Mutation sites in exon 9,10,11,12 of GLI3 gene were detected in 103 patients with ICTEV by denaturing gradient gel electrophoresis technique.
RESULTS
rs929387ls located in exon 14 of GLI3 gene have transmission disequilibrium in 84 nuclear pedigrees (P<0.05), and rs846266 located in exon 4 have no transmission disequilibrium (P>0.05). A synonymous mutation in exon 9 was detected in one patient and his mother.
CONCLUSION
There is an association between GLI3 gene and ICTEV, and exons 9,10,11,12 are not its mutation hot spots.
目的
探讨GLI3基因与特发性先天性马蹄内翻足（ICTEV）的相关性及突变情况。
方法
（1）采用限制性片段长度多态性分析法对84个特发性先天性马蹄内翻足核心家系中2个单核苷酸多态性（SNP）的基因型进行分析。分别通过ETDT软件对单个SNP位点与ICTEV进行关联分析。（2）采用变性梯度凝胶电泳技术检测103例ICTEV患者GLI3基因第9、10、11、12外显子的突变位点。
结果
位于GLI3基因第14外显子的rs9293871在84个核心家系中存在传递不平衡（P<0.05），位于第4外显子的rs846266不存在传递不平衡（P>0.05）。在1例患者及其母亲中检测到第9外显子的同义突变。
结论
GLI3基因与ICTEV存在相关性，第9、10、11、12外显子不是其突变热点。
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